The mildest known case of Fukuyama-type congenital muscular dystrophy

Brain and Development

Volumn 28, Issue 8, 2006, Pages 537-540

  Akiyama, Tomoyuki ^a   Ohtsuka, Yoko ^a   Takata, Tsutomu ^a   Hattori, Junri ^a   Kawakita, Yukiko ^b   Saito, Kayoko ^b  

^a OKAYAMA UNIVERSITY   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Brain malformation; Clinical spectrum; Epilepsy; Fukuyama type congenital muscular dystrophy; Molecular genetic analysis; West syndrome

Indexed keywords

ALPHA DYSTROGLYCAN; FUKUTIN; VALPROIC ACID;

ADOLESCENT; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME; EPILEPSY; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC TRANSCRIPTION; GLYCOSYLATION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; INTRACTABLE EPILEPSY; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; MOLECULAR WEIGHT; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; PROMOTER REGION; RNA TRANSLATION; SEIZURE; WEST SYNDROME;

ADOLESCENT; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MENTAL DISORDERS; MUSCLE WEAKNESS; MUSCULAR DYSTROPHIES; MUTATION;

EID: 33745875304     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2006.02.003     Document Type: Article

References (10)

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